Bare Lymphocyte Syndrome, Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BLS1 MCID: BRL011 MIFTS: 44	Bare Lymphocyte Syndrome, Type I (BLS1) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I ⁵⁷ ¹³ ⁷²

Hla Class I Deficiency ⁵⁷ ¹² ²⁵ ⁷⁴ ⁵⁵

Bare Lymphocyte Syndrome Type I ¹² ²⁵

Mhc Class I Deficiency ¹² ¹⁵

Bls, Type I ⁵⁷ ¹²

Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency ⁵⁷

Major Histocompatibility Complex Class 1 Deficiency ⁵³

Bare Lymphocyte Syndrome 1 ⁷⁴

Mhc Class 1 Deficiency ⁵³

Bls Type I ⁷⁴

Bls I ⁷⁴

Blsi ¹²

Bls1 ⁷⁴

Bl-1 ¹⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
reduced life expectancy

HPO:

³²

bare lymphocyte syndrome, type i:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Skin diseases Respiratory diseases Gastrointestinal diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Major histocompatibility complex class I deficiency

External Ids:

Disease Ontology ¹² DOID:0060009

OMIM ⁵⁷ 604571

MeSH ⁴⁴ D007153

ICD10 ³³ D81.6

MedGen ⁴² C1858266

EFO ¹⁷ EFO_0005173

UMLS ⁷² C1858266

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Summaries for Bare Lymphocyte Syndrome, Type I

Genetics Home Reference : ²⁵ Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. Many people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition. People with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to orbital melanoma and burkitt lymphoma. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include skin and lung, and related phenotypes are chronic otitis media and emphysema

Disease Ontology : ¹² A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops from deficiency or decreased surface expression of MHC Class I, has material basis in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.

UniProtKB/Swiss-Prot : ⁷⁴ Bare lymphocyte syndrome 1: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

More information from OMIM: 604571

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Related Diseases for Bare Lymphocyte Syndrome, Type I

Diseases in the Bare Lymphocyte Syndrome, Type Ii family:

Bare Lymphocyte Syndrome, Type I

Diseases related to Bare Lymphocyte Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)

#	Related Disease	Score	Top Affiliating Genes
1	orbital melanoma	10.3	TAPBP TAP1
2	burkitt lymphoma	10.3
3	lymphoma	10.3
4	bronchiectasis	10.2
5	fibrosarcoma	10.2
6	idiopathic bronchiectasis	10.2	TAP2 TAP1
7	bacterial infectious disease	10.0
8	panbronchiolitis, diffuse	10.0
9	combined t cell and b cell immunodeficiency	10.0	RFXAP RFX5
10	systemic lupus erythematosus	9.9
11	suppressor of tumorigenicity 3	9.9
12	aminopterin syndrome sine aminopterin	9.9
13	lung cancer susceptibility 3	9.9
14	graft-versus-host disease	9.9
15	neutropenia	9.9
16	squamous cell papilloma	9.9
17	melanoma	9.9
18	hepatitis b	9.9
19	papilloma	9.9
20	lupus erythematosus	9.9
21	colorectal cancer	9.9
22	hepatocellular carcinoma	9.9
23	lung cancer	9.9
24	leukemia	9.9
25	colon adenocarcinoma	9.9
26	lung disease	9.9
27	vasculitis	9.9
28	immunodeficiency by defective expression of mhc class i	9.9
29	spondylitis	9.8	TAP2 TAP1
30	severe combined immunodeficiency	9.5	RFXAP RFXANK RFX5
31	mature b-cell neoplasm	9.3	RFXANK CD40
32	bare lymphocyte syndrome, type ii	9.3	TAP2 RFXAP RFXANK RFX5

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:

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Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

³² (show all 9)

#	Description	HPO Source Accession
1	chronic otitis media ³²	HP:0000389
2	emphysema ³²	HP:0002097
3	skin ulcer ³²	HP:0200042
4	ectopia lentis ³²	HP:0001083
5	nasal polyposis ³²	HP:0100582
6	chronic sinusitis ³²	HP:0011109
7	bronchiectasis ³²	HP:0002110
8	bronchiolitis ³²	HP:0011950
9	recurrent bronchitis ³²	HP:0002837

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
chronic otitis media

Head And Neck Eyes:
ectopia lentis

Respiratory Airways:
bronchitis
bronchiolitis
bronchial obstruction
unilateral bronchiectasis
bilateral bronchiectasis
more

Laboratory Abnormalities:
normal cd8+/cd4+ ratio

Respiratory Lung:
emphysema

Head And Neck Nose:
nasal polyposis
chronic sinusitis
pansinusitis

Skin Nails Hair Skin:
pigmentary abnormalities
localized cutaneous necrobiosis lipoidica
deep skin ulcers

Clinical features from OMIM:

604571

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Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	An 8-week Full Face HUT Design, Single Center, Double Blinded, Controlled and Randomized Study to Evaluate Different Product Regimens' Performance on Protecting Skin With Resilience Under Tracked City Environmental Aggressors	Completed	NCT03264677

Search NIH Clinical Center for Bare Lymphocyte Syndrome, Type I

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Genetic Tests for Bare Lymphocyte Syndrome, Type I

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Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

⁴¹

Skin, Lung

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Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

(show all 24)

#	Title	Authors	PMID	Year
1	A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. ⁹ ⁸ ⁷¹	Yabe T...Juji T	12149238	2002
2	Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. ³⁸ ⁸ ⁷¹	Furukawa H...Juji T	10074494	1999
3	Homozygous human TAP peptide transporter mutation in HLA class I deficiency. ³⁸ ⁸ ⁷¹	de la Salle H...Laforet M	7517574	1994
4	Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. ⁸ ⁷¹	Moins-Teisserenc HT...Baycal C	10560675	1999
5	Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. ⁸ ⁷¹	Maeda H...Tohyama H	3891604	1985
6	HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. ⁹ ³⁸	de la Salle H...Hanau D	10074495	1999
7	Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome. ³⁸	Law-Ping-Man S...Adamski H	30189467	2018
8	HLA class I deficiency as an additional cause of bronchiectasis. ³⁸	Zimmer J...Ollert M	26172480	2015
9	HLA class I deficiency as an additional cause of bronchiectasis - Reply. ³⁸	Guan WJ...Zhong NS	26172572	2015
10	TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss. ³⁸	Caversaccio M...Gadola SD	18283480	2008
11	HLA class I deficiency syndrome mimicking Wegener's granulomatosis. ³⁸	Villa-Forte A...Zimmer J	18668571	2008
12	Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. ³⁸	de la Salle H...Ikinciogullari A	17879436	2007
13	Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. ³⁸	de la Salle H...Hogan P	17879452	2007
14	Clinical and immunological aspects of HLA class I deficiency. ³⁸	Zimmer J...de la Salle H	16087697	2005
15	Recurrent infections and bilateral uveitis in a patient with CD8 deficiency. ³⁸	Farhoudi A...Gharagozlou M	17301423	2005
16	[Molecular basis of HLA class-I deficiency and bare lymphocyte syndrome (BLS)]. ³⁸	Dzik M...Majdan M	15995590	2005
17	Skewed inhibitory receptors expression in a TAP2-deficient patient. ³⁸	Crespi C...Matamoros N	12644316	2003
18	Asymptomatic deficiency in the peptide transporter associated to antigen processing (TAP). ³⁸	de la Salle H...Naman R	12067308	2002
19	Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ³⁸	Azuma A...Kudoh S	11587107	2001
20	Granulomatous disease associated with HLA class I deficiency. ³⁸	Hauser C	11298563	2001
21	Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ³⁸	Furukawa H...Juji T	9952025	1999
22	Corrections and clarifications. ³⁸		17841697	1994
23	CD1 expression is not affected by human peptide transporter deficiency. ³⁸	Hanau D...de la Salle H	7530699	1994
24	[The bare lymphocyte syndrome. Combined immune deficiency by absence of HLA antigen expression]. ³⁸	Touraine JL	6231562	1984

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Genes for Bare Lymphocyte Syndrome, Type I

Genes related to Bare Lymphocyte Syndrome, Type I (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TAPBP	TAP Binding Protein	Protein Coding	925.82	Molecular basis known ⁵⁷ Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	12149238 12149238
2	TAP1	Transporter 1, ATP Binding Cassette Subfamily B Member	Protein Coding	925.06	Molecular basis known ⁵⁷ Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	10074494 3891604 10074495
3	TAP2	Transporter 2, ATP Binding Cassette Subfamily B Member	Protein Coding	900	Molecular basis known ⁵⁷ Pathogenic ⁶	10560675 7517574
4	RFXAP	Regulatory Factor X Associated Protein	Protein Coding	16.05	DISEASES inferred ¹⁵
5	RFX5	Regulatory Factor X5	Protein Coding	15.74	DISEASES inferred ¹⁵
6	LIMK1	LIM Domain Kinase 1	Protein Coding	14.68	DISEASES inferred ¹⁵
7	KLRC1	Killer Cell Lectin Like Receptor C1	Protein Coding	14.57	DISEASES inferred ¹⁵
8	RFXANK	Regulatory Factor X Associated Ankyrin Containing Protein	Protein Coding	14.49	DISEASES inferred ¹⁵
9	CD40	CD40 Molecule	Protein Coding	14.1	DISEASES inferred ¹⁵
10	CD8A	CD8a Molecule	Protein Coding	14.1	DISEASES inferred ¹⁵

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Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

⁶ (show top 50) (show all 143)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	TAP1	TAP1, IVS1, G-A, -1	single nucleotide variant	Pathogenic
2	TAP2	NM_000544.3(TAP2): c.958del (p.Glu320fs)	deletion	Pathogenic		6:32800589-32800589	6:32832812-32832812
3	TAP1	NM_000593.5(TAP1): c.1151C> G (p.Ser384Ter)	single nucleotide variant	Pathogenic		6:32818800-32818800	6:32851023-32851023
4	TAPBP	TAPBP, 7.4-KB DEL	deletion	Pathogenic
5	TAP2	TAP2, ARG253TER	single nucleotide variant	Pathogenic
6	TAP2	TAP2, 1-BP DEL	deletion	Pathogenic
7	TAP2	NM_000544.3(TAP2): c.217_218del (p.Thr73fs)	deletion	Likely pathogenic		6:32805793-32805794	6:32838016-32838017
8	TAP2	NM_000544.3(TAP2): c.1272+1G> A	single nucleotide variant	Likely pathogenic	rs1222208628	6:32800109-32800109	6:32832332-32832332
9	TAP1	NM_000593.5(TAP1): c.1727C> T (p.Pro576Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2228106	6:32816448-32816448	6:32848671-32848671
10	TAP1	NM_000593.5(TAP1): c.1231-3C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56366814	6:32818297-32818297	6:32850520-32850520
11	TAP2	NM_000544.3(TAP2): c.656C> T (p.Ser219Phe)	single nucleotide variant	Uncertain significance	rs1554235670	6:32803503-32803503	6:32835726-32835726
12	TAPBP	NM_003190.4(TAPBP): c.1258G> A (p.Ala420Thr)	single nucleotide variant	Uncertain significance	rs1382572674	6:33271947-33271947	6:33304170-33304170
13	TAPBP	NM_003190.4(TAPBP): c.845del (p.Val282fs)	deletion	Uncertain significance	rs765712832	6:33272789-33272789	6:33305012-33305012
14	TAPBP	NM_003190.4(TAPBP): c.161C> T (p.Pro54Leu)	single nucleotide variant	Uncertain significance	rs139155669	6:33281518-33281518	6:33313741-33313741
15	TAP1	NM_000593.5(TAP1): c.1383C> G (p.Asn461Lys)	single nucleotide variant	Uncertain significance	rs756823000	6:32818142-32818142	6:32850365-32850365
16	TAP1	NM_000593.5(TAP1): c.1157C> A (p.Ser386Tyr)	single nucleotide variant	Uncertain significance	rs779346609	6:32818794-32818794	6:32851017-32851017
17	TAP1	NM_000593.5(TAP1): c.590C> G (p.Pro197Arg)	single nucleotide variant	Uncertain significance	rs1010241068	6:32821004-32821004	6:32853227-32853227
18	TAP2	NM_000544.3(TAP2): c.848G> C (p.Gly283Ala)	single nucleotide variant	Uncertain significance	rs1278521116	6:32803028-32803028	6:32835251-32835251
19	TAPBP	NM_003190.4(TAPBP): c.369G> A (p.Trp123Ter)	single nucleotide variant	Uncertain significance	rs1554279286	6:33281094-33281094	6:33313317-33313317
20	TAP1	NM_000593.5(TAP1): c.496_516dup (p.Ala166_Leu172dup)	duplication	Uncertain significance	rs1311169361	6:32821078-32821098	6:32853301-32853321
21	TAP2	NM_000544.3(TAP2): c.1776G> A (p.Met592Ile)	single nucleotide variant	Uncertain significance	rs147150415	6:32797726-32797726	6:32829949-32829949
22	TAP2	NM_000544.3(TAP2): c.359G> T (p.Ser120Ile)	single nucleotide variant	Uncertain significance	rs932756573	6:32805652-32805652	6:32837875-32837875
23	TAP1	NM_000593.5(TAP1): c.919G> A (p.Gly307Arg)	single nucleotide variant	Uncertain significance	rs59328013	6:32819991-32819991	6:32852214-32852214
24	TAPBP	NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser)	single nucleotide variant	Uncertain significance	rs561629511	6:33273072-33273072	6:33305295-33305295
25	TAP1	NM_000593.5(TAP1): c.1300A> T (p.Met434Leu)	single nucleotide variant	Uncertain significance	rs779844691	6:32818225-32818225	6:32850448-32850448
26	TAP1	NM_000593.5(TAP1): c.122C> T (p.Pro41Leu)	single nucleotide variant	Uncertain significance	rs554237124	6:32821472-32821472	6:32853695-32853695
27	TAPBP	NM_003190.4(TAPBP): c.1181G> A (p.Arg394His)	single nucleotide variant	Uncertain significance	rs763198738	6:33272103-33272103	6:33304326-33304326
28	TAPBP	NM_003190.4(TAPBP): c.464C> G (p.Ala155Gly)	single nucleotide variant	Uncertain significance	rs747106102	6:33280999-33280999	6:33313222-33313222
29	TAP1	NM_000593.5(TAP1): c.1313G> A (p.Arg438Gln)	single nucleotide variant	Uncertain significance	rs373810087	6:32818212-32818212	6:32850435-32850435
30	TAP2	NM_000544.3(TAP2): c.1909C> A (p.Leu637Ile)	single nucleotide variant	Uncertain significance	rs752068310	6:32797200-32797200	6:32829423-32829423
31	TAP1	NM_000593.5(TAP1): c.2399T> C (p.Val800Ala)	single nucleotide variant	Uncertain significance	rs1554242514	6:32813384-32813384	6:32845607-32845607
32	TAP1	NM_000593.5(TAP1): c.989G> A (p.Arg330His)	single nucleotide variant	Uncertain significance	rs140245535	6:32819921-32819921	6:32852144-32852144
33	TAP2	NM_000544.3(TAP2): c.1852G> T (p.Ala618Ser)	single nucleotide variant	Uncertain significance		6:32797257-32797257	6:32829480-32829480
34	TAP2	NM_000544.3(TAP2): c.2005G> A (p.Ala669Thr)	single nucleotide variant	Uncertain significance		6:32796739-32796739	6:32828962-32828962
35	TAP2	NM_000544.3(TAP2): c.1769A> G (p.Gln590Arg)	single nucleotide variant	Uncertain significance		6:32797733-32797733	6:32829956-32829956
36	TAP2	NM_000544.3(TAP2): c.1720G> A (p.Asp574Asn)	single nucleotide variant	Uncertain significance		6:32797782-32797782	6:32830005-32830005
37	TAP2	NM_000544.3(TAP2): c.1714G> A (p.Glu572Lys)	single nucleotide variant	Uncertain significance		6:32797788-32797788	6:32830011-32830011
38	TAP2	NM_000544.3(TAP2): c.1655A> G (p.Glu552Gly)	single nucleotide variant	Uncertain significance		6:32797847-32797847	6:32830070-32830070
39	TAP2	NM_000544.3(TAP2): c.1373C> T (p.Thr458Met)	single nucleotide variant	Uncertain significance		6:32798483-32798483	6:32830706-32830706
40	TAP2	NM_000544.3(TAP2): c.818G> A (p.Arg273Gln)	single nucleotide variant	Uncertain significance		6:32803058-32803058	6:32835281-32835281
41	TAP2	NM_000544.3(TAP2): c.100G> A (p.Gly34Arg)	single nucleotide variant	Uncertain significance		6:32805911-32805911	6:32838134-32838134
42	TAP1	NM_000593.5(TAP1): c.2005A> G (p.Met669Val)	single nucleotide variant	Uncertain significance		6:32815368-32815368	6:32847591-32847591
43	TAP1	NM_000593.5(TAP1): c.1637C> T (p.Pro546Leu)	single nucleotide variant	Uncertain significance		6:32816538-32816538	6:32848761-32848761
44	TAP1	NM_000593.5(TAP1): c.1534A> G (p.Met512Val)	single nucleotide variant	Uncertain significance		6:32816790-32816790	6:32849013-32849013
45	TAP1	NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln)	single nucleotide variant	Uncertain significance	rs121917702	6:32814909-32814909	6:32847132-32847132
46	TAPBP	NM_003190.4(TAPBP): c.591G> A (p.Pro197=)	single nucleotide variant	Uncertain significance		6:33273043-33273043	6:33305266-33305266
47	TAP1	NM_000593.5(TAP1): c.289C> T (p.Arg97Trp)	single nucleotide variant	Uncertain significance		6:32821305-32821305	6:32853528-32853528
48	TAP1	NM_000593.5(TAP1): c.184G> A (p.Ala62Thr)	single nucleotide variant	Uncertain significance		6:32821410-32821410	6:32853633-32853633
49	TAP1	NM_000593.5(TAP1): c.73C> T (p.Pro25Ser)	single nucleotide variant	Uncertain significance		6:32821521-32821521	6:32853744-32853744
50	TAPBP	NM_003190.4(TAPBP): c.1046T> C (p.Leu349Pro)	single nucleotide variant	Uncertain significance		6:33272238-33272238	6:33304461-33304461

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Expression for Bare Lymphocyte Syndrome, Type I

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type I.

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Pathways for Bare Lymphocyte Syndrome, Type I

Pathways related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.59	TAPBP TAP2 TAP1 LIMK1 KLRC1 CD8A
2	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	12.98	TAPBP TAP2 TAP1 KLRC1 CD8A CD40
3	Human cytomegalovirus infection ³⁷ Show member pathways Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	12.53	TAPBP TAP2 TAP1 LIMK1
4	Allograft rejection ³⁷ ¹ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.35	TAPBP TAP2 TAP1 RFXAP RFXANK RFX5
5	NF-kappaB Signaling ⁴	12.17	TAP2 TAP1 CD8A
6	Antigen processing-Cross presentation ⁶⁶ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁶ Endosomal/Vacuolar pathway ⁶⁶ ER-Phagosome pathway ⁶⁶ Immune response Antigen presentation by MHC class I ²²	12	TAPBP TAP2 TAP1 CD8A
7	Tuberculosis ³⁷	11.83	RFXAP RFXANK RFX5
8	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.67	KLRC1 CD8A CD40
9	Primary immunodeficiency ³⁷	10.74	TAP2 TAP1 RFXAP RFXANK RFX5 CD8A
10	Antigen Presentation- Folding, assembly and peptide loading of class I MHC ⁶⁶	10.73	TAPBP TAP2 TAP1

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GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear speck	GO:0016607	9.5	TAP2 RFXAP LIMK1
2	phagocytic vesicle membrane	GO:0030670	9.43	TAPBP TAP2 TAP1
3	endoplasmic reticulum-Golgi intermediate compartment membrane	GO:0033116	9.33	TAPBP TAP2 TAP1
4	TAP complex	GO:0042825	8.96	TAP2 TAP1
5	MHC class I peptide loading complex	GO:0042824	8.8	TAPBP TAP2 TAP1

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	immune system process	GO:0002376	9.71	TAP2 TAP1 CD8A CD40
2	regulation of immune response	GO:0050776	9.61	KLRC1 CD8A CD40
3	antigen processing and presentation of peptide antigen via MHC class I	GO:0002474	9.43	TAPBP TAP2 TAP1
4	peptide transport	GO:0015833	9.37	TAP2 TAP1
5	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	GO:0002479	9.33	TAPBP TAP2 TAP1
6	cytosol to ER transport	GO:0046967	9.32	TAP2 TAP1
7	antigen processing and presentation of endogenous peptide antigen via MHC class I	GO:0019885	9.13	TAPBP TAP2 TAP1
8	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	GO:1990668	8.8	TAPBP TAP2 TAP1

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	9.46	TAP2 TAP1
2	peptide antigen binding	GO:0042605	9.43	TAPBP TAP1
3	MHC protein binding	GO:0042287	9.4	TAP2 TAP1
4	peptide transmembrane transporter activity	GO:1904680	9.37	TAP2 TAP1
5	MHC class I protein binding	GO:0042288	9.33	TAPBP TAP1 CD8A
6	TAP2 binding	GO:0046979	9.32	TAPBP TAP1
7	MHC class Ib protein binding	GO:0023029	9.26	TAP2 TAP1
8	TAP1 binding	GO:0046978	9.13	TAPBP TAP2 TAP1
9	peptide antigen-transporting ATPase activity	GO:0015433	8.8	TAPBP TAP2 TAP1

Sources

Sources for Bare Lymphocyte Syndrome, Type I

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁸ ExPASy

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Bare Lymphocyte Syndrome, Type I (BLS1)

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

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